American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 July 2005

Volume 136A, Issue 2

Pages 117–231

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy (pages 117–121)

      Kirsten D. Loureiro, Kelly K. Kao, Kenneth Lyons Jones, Sonia Alvarado, Carmen Chavez, Lyn Dick, Robert Felix, Diana Johnson and Christina D. Chambers

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30744

    2. Development of an audit tool for genetic services (pages 122–127)

      Heather Skirton, Evelyn Parsons and Paul Ewings

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30711

    3. The adult phenotype in Costello syndrome (pages 128–135)

      Susan M. White, J.M. Graham Jr, B. Kerr, K. Gripp, R. Weksberg, C. Cytrynbaum, J.L. Reeder, F.J. Stewart, M. Edwards, M. Wilson and A. Bankier

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30747

    4. Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements (pages 136–139)

      Mourad Naïmi, Sandrine Tardieu, Christel Depienne, Merle Ruberg, Alexis Brice, Odile Dubourg and Eric LeGuern

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30790

    5. Maladaptive behaviors and risk factors among the genetic subtypes of Prader–Willi syndrome (pages 140–145)

      Sigan L. Hartley, William E. MacLean Jr, Merlin G. Butler, Jennifer Zarcone and Travis Thompson

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30771

    6. PTPN11 mutations play a minor role in isolated congenital heart disease (pages 146–151)

      Constance G. Weismann, A. Hager, H. Kaemmerer, C. L. Maslen, Cynthia D. Morris, D. Schranz, J. Kreuder and B.D. Gelb

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30789

    7. Risks for severe mental retardation occurring in isolation and with other developmental disabilities (pages 152–157)

      Laura L. Jelliffe-Pawlowski, Gary M. Shaw, Verne Nelson and John A. Harris

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30801

    8. Terminal deletion of 6p results in a recognizable phenotype (pages 162–168)

      Ruth J. Lin, Athena M. Cherry, Kelly C. Chen, Michael Lyons, H. Eugene Hoyme and Louanne Hudgins

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30784

    9. Characterization of six marker chromosomes by comparative genomic hybridization (pages 169–174)

      J.M. Belloso, M.R. Caballín, E. Gabau, N. Baena, R. Vidal, S. Villatoro and M. Guitart

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.a.30788

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): A description of a second case (pages 175–178)

      Laura Rodríguez, Marcella Zollino, Salvador Climent, Elena Mansilla, Fermina López-Grondona, María Luisa Martínez-Fernández, Marina Murdolo and María Luisa Martínez-Frías

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.a.30775

    2. Intrachromosomal triplication for the distal part of chromosome 15q (pages 179–184)

      C. Schluth, M. G. Mattei, C. Mignon-Ravix, S. Salman, Y. Alembik, J. Willig, E. Ginglinger and E. Jeandidier

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30745

    3. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome (pages 185–189)

      Fatih Tufan, Kivanc Cefle, Seval Türkmen, Aydin Türkmen, Unal Zorba, Memduh Dursun, Sükrü Oztürk, Sükrü Palandüz, Tevfik Ecder, Stefan Mundlos and Denise Horn

      Article first published online: 10 JUN 2005 | DOI: 10.1002/ajmg.a.30785

    4. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation (pages 190–193)

      Alberto Hidalgo-Bravo, Ericka N. Pompa-Mera, Susana Kofman-Alfaro, Cesar R. Gonzalez-Bonilla and Juan Carlos Zenteno

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30792

    5. CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features (pages 194–197)

      Michael Weinstein, Els Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian G. Frank, Markus Aebi, Joe T. R. Clarke, Anne Griffiths, Lorne Seargeant and Nicola Poplawski

      Article first published online: 8 JUN 2005 | DOI: 10.1002/ajmg.a.30851

    6. Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1 (pages 198–200)

      Luigi Titomanlio, Nicola Brunetti Pierri, Alfonso Romano, Floriana Imperati, Melissa Borrelli, Valentina Barletta, Alvaro Antonio Diano, Imma Castaldo, Lucio Santoro and Ennio Del Giudice

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30795

    7. Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent (pages 201–204)

      Anita Vinton, Michael C. Fahey, Terence J. O'Brien, Janet Shaw, Elsdon Storey, R.J. McKinlay Gardner, Peter J. Mitchell, Desirée Du Sart and John O. King

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.a.30355

    8. Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency (pages 205–209)

      M.Z. Seidahmed, E.A. Alyamani, M.S. Rashed, A.A. Saadallah, O.B. Abdelbasit, M.M. Shaheed, A. Rasheed, F.A. Hamid and M.A. Sabry

      Article first published online: 10 JUN 2005 | DOI: 10.1002/ajmg.a.30796

    9. Generalized arterial calcification of infancy: Different clinical courses in two affected siblings (pages 210–213)

      Kun-Shan Cheng, Ming-Ren Chen, Nico Ruf, Shuan-Pei Lin and Frank Rutsch

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30800

    10. Mosaicism for an FMR1 gene deletion in a fragile X female (pages 214–217)

      Hongxin Fan, Jessica K. Booker, Shawn E. McCandless, Vandana Shashi, Alison Fleming and Rosann A. Farber

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30807

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. Central nervous system malformations in oral-facial-digital syndrome, type 1 (page 218)

      Margareta Holub, Lorraine Potocki and Olaf A. Bodamer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.a.30751

    2. New case of contiguous gene syndrome at chromosome 8p11.2p12 (pages 221–222)

      M. Cau, R. Congiu, R. Origa, R. Galanello, M.A. Melis and A.L. Nucaro

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.a.30814

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. Update: PGD and Holt-Oram syndrome (page 223)

      Deborah A. McDermott, Jie He, Yan S. Song, Isaac Kligman and Craig T. Basson

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30804

  5. Errata

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. You have free access to this content
      Pachygyria and polymicrogyria in 22q11 deletion syndrome (page 224)

      Hiroaki Ehara, Yoshihiro Maegaki and Kenzo Takeshita

      Article first published online: 23 JUN 2005 | DOI: 10.1002/ajmg.a.30706

    2. You have free access to this content
      Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004) (page 225)

      David Ng, Jennifer J. Johnston, Joyce T. Turner, Eilis A. Boudreau, Edythe A. Wiggs, William H. Theodore and Leslie G. Biesecker

      Article first published online: 23 JUN 2005 | DOI: 10.1002/ajmg.a.30738

    3. You have free access to this content
      A retrospective family study of childhood medulloblastoma (Am J Med Genet 134A(4): 399–403) (page 226)

      David Ng, Theodora Stavrou, Ling Liu, Michael D. Taylor, Bert Gold, Michael Dean, Michael J. Kelley, Elizabeth C. Dubovsky, Gilbert Vezina, H.S. Nicholson, Julianne Byrne, James T. Rutka, David Hogg, Gregory H. Reaman and Alisa M. Goldstein

      Article first published online: 23 JUN 2005 | DOI: 10.1002/ajmg.a.30821

    4. You have free access to this content
  6. AJMG Reviewers

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    7. AJMG Reviewers
    1. You have free access to this content

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